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Aliases for AGL Gene

Aliases for AGL Gene

  • Amylo-Alpha-1, 6-Glucosidase, 4-Alpha-Glucanotransferase 2 3 5
  • Amylo-1, 6-Glucosidase, 4-Alpha-Glucanotransferase 2 3
  • Glycogen Debranching Enzyme 2 3
  • Glycogen Debrancher 3 4
  • GDE 3 4
  • Amylo-Alpha-1, 6-Glucosidase, 4-Alpha-Glucanotransferaseprovided 3
  • Glycogen Storage Disease Type III 2
  • Glycogen Debranching Protein 3

External Ids for AGL Gene

Previous GeneCards Identifiers for AGL Gene

  • GC01P101113
  • GC01P099441
  • GC01P099606
  • GC01P099778
  • GC01P100027
  • GC01P100088
  • GC01P100315
  • GC01P098438

Summaries for AGL Gene

Entrez Gene Summary for AGL Gene

  • This gene encodes the glycogen debrancher enzyme which is involved in glycogen degradation. This enzyme has two independent catalytic activities which occur at different sites on the protein: a 4-alpha-glucotransferase activity and a amylo-1,6-glucosidase activity. Mutations in this gene are associated with glycogen storage disease although a wide range of enzymatic and clinical variability occurs which may be due to tissue-specific alternative splicing. Alternatively spliced transcripts encoding different isoforms have been described. [provided by RefSeq, Jul 2008]

GeneCards Summary for AGL Gene

AGL (Amylo-Alpha-1, 6-Glucosidase, 4-Alpha-Glucanotransferase) is a Protein Coding gene. Diseases associated with AGL include Glycogen Storage Disease Iiia and Glycogen Storage Disease. Among its related pathways are Metabolism and Immune System. GO annotations related to this gene include carbohydrate binding and polysaccharide binding. An important paralog of this gene is ENSG00000283495.

UniProtKB/Swiss-Prot for AGL Gene

  • Multifunctional enzyme acting as 1,4-alpha-D-glucan:1,4-alpha-D-glucan 4-alpha-D-glycosyltransferase and amylo-1,6-glucosidase in glycogen degradation.

Tocris Summary for AGL Gene

  • Glycosylases are a group of enzymes that includes glucosidases, mannosidases and heparanases. There are two glucosidase subtypes, both found in the gut. They hydrolyze terminal (1,4)alpha-glucosidic linkages and (1,6)beta-glucosidic linkages, liberating alpha-glucose and beta-glucose.

Gene Wiki entry for AGL Gene

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for AGL Gene

Genomics for AGL Gene

Regulatory Elements for AGL Gene

Enhancers for AGL Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH01F100036 1.1 ENCODE 10.4 +188.7 188650 4.1 MLX WRNIP1 ARID4B SIN3A DMAP1 ZNF2 YY1 CBX5 KLF13 SP3 MFSD14A LRRC39 SLC30A7 SASS6 BRI3P1 RTCA AGL ENSG00000241073
GH01F099848 1.1 ENCODE 6.7 +0.4 428 4.2 HDGF PKNOX1 CREB3L1 WRNIP1 ARID4B SIN3A DMAP1 ZNF2 YY1 CBX5 AGL ENSG00000283495
GH01F099681 1.1 Ensembl ENCODE 4.6 -167.5 -167463 2.8 INSM2 BRCA1 RAD21 ZEB1 RFX5 ZNF366 FOS SP3 CEBPB TSHZ1 PALMD FRRS1 AGL HMGB3P10 GC01P099667
GH01F099986 0.4 Ensembl 10.1 +136.6 136624 0.2 SOX13 FOXA3 AGL SASS6 TRMT13 RNU6-750P RNU6-1318P
GH01F099672 1.1 FANTOM5 ENCODE 3.6 -176.8 -176756 2.6 GTF2F1 TBP PKNOX1 RAD21 NFYB HNF4G TCF7L2 CHD2 ZNF263 CEBPB PALMD AGL GC01P099667 HMGB3P10
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around AGL on UCSC Golden Path with GeneCards custom track

Promoters for AGL Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000541731 1023 3000 HDGF PKNOX1 CREB3L1 WRNIP1 ARID4B SIN3A DMAP1 ZNF2 CBX5 DEK

Genomic Location for AGL Gene

Chromosome:
1
Start:
99,850,077 bp from pter
End:
99,924,023 bp from pter
Size:
73,947 bases
Orientation:
Plus strand

Genomic View for AGL Gene

Genes around AGL on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
AGL Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for AGL Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for AGL Gene

Proteins for AGL Gene

  • Protein details for AGL Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P35573-GDE_HUMAN
    Recommended name:
    Glycogen debranching enzyme
    Protein Accession:
    P35573
    Secondary Accessions:
    • A6NCX7
    • A6NEK2
    • D3DT51
    • P78354
    • P78544
    • Q59H92
    • Q6AZ90
    • Q9UF08

    Protein attributes for AGL Gene

    Size:
    1532 amino acids
    Molecular mass:
    174764 Da
    Quaternary structure:
    • Monomer. Interacts with NHLRC1/malin.
    SequenceCaution:
    • Sequence=BAD92104.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for AGL Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for AGL Gene

Post-translational modifications for AGL Gene

No data available for DME Specific Peptides for AGL Gene

Domains & Families for AGL Gene

Suggested Antigen Peptide Sequences for AGL Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P35573

UniProtKB/Swiss-Prot:

GDE_HUMAN :
  • Belongs to the glycogen debranching enzyme family.
Family:
  • Belongs to the glycogen debranching enzyme family.
genes like me logo Genes that share domains with AGL: view

No data available for Gene Families for AGL Gene

Function for AGL Gene

Molecular function for AGL Gene

GENATLAS Biochemistry:
amylo-1,6-glucosidase (4-alpha-glucantransferase),debranching enzyme,160kDa,glycogen catabolism) with liver,muscle specific and four further minor alternatively spliced isoforms
UniProtKB/Swiss-Prot CatalyticActivity:
Transfers a segment of a (1->4)-alpha-D-glucan to a new position in an acceptor, which may be glucose or a (1->4)-alpha-D-glucan.
UniProtKB/Swiss-Prot CatalyticActivity:
Hydrolysis of (1->6)-alpha-D-glucosidic branch linkages in glycogen phosphorylase limit dextrin.
UniProtKB/Swiss-Prot Function:
Multifunctional enzyme acting as 1,4-alpha-D-glucan:1,4-alpha-D-glucan 4-alpha-D-glycosyltransferase and amylo-1,6-glucosidase in glycogen degradation.

Gene Ontology (GO) - Molecular Function for AGL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004133 glycogen debranching enzyme activity TAS 1374391
GO:0004134 4-alpha-glucanotransferase activity EXP,IBA --
GO:0004135 amylo-alpha-1,6-glucosidase activity EXP,IBA --
GO:0005515 protein binding IPI 17908927
GO:0016740 transferase activity IEA --
genes like me logo Genes that share ontologies with AGL: view
genes like me logo Genes that share phenotypes with AGL: view

Human Phenotype Ontology for AGL Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for AGL Gene

MGI Knock Outs for AGL:
  • Agl tm1b(EUCOMM)Wtsi
  • Agl tm1a(EUCOMM)Wtsi
  • Agl tm1Geno

Animal Model Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for AGL Gene

Localization for AGL Gene

Subcellular locations from UniProtKB/Swiss-Prot for AGL Gene

Cytoplasm. Note=Under glycogenolytic conditions localizes to the nucleus.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for AGL gene
Compartment Confidence
extracellular 5
cytosol 5
nucleus 2
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for AGL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA,IDA 17908927
GO:0005829 cytosol TAS --
GO:0043033 isoamylase complex TAS 1374391
genes like me logo Genes that share ontologies with AGL: view

Pathways & Interactions for AGL Gene

genes like me logo Genes that share pathways with AGL: view

Pathways by source for AGL Gene

2 KEGG pathways for AGL Gene
1 GeneGo (Thomson Reuters) pathway for AGL Gene

Gene Ontology (GO) - Biological Process for AGL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005975 carbohydrate metabolic process IEA --
GO:0005978 glycogen biosynthetic process IEA --
GO:0005980 glycogen catabolic process TAS --
GO:0008152 metabolic process IEA --
genes like me logo Genes that share ontologies with AGL: view

No data available for SIGNOR curated interactions for AGL Gene

Drugs & Compounds for AGL Gene

(8) Drugs for AGL Gene - From: HMDB, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Water Approved Pharma 0
Acarbose Approved, Investigational Pharma Alpha-glucosidase inhibitor, Glucosidase alpha inhibitor (intestinal) 85
maltose Experimental Pharma 0
1-Deoxynojirimycin Experimental Pharma Glucosidase I and II inhibitor 26
Kifunensine Experimental Pharma Inhibitor of class I alpha-mannosidases 0

(10) Additional Compounds for AGL Gene - From: HMDB, Novoseek, and Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Glycogen
  • Animal starch
  • Glycogen
  • Liver starch
  • Lyoglycogen
  • Phytoglycogen
9005-79-2
Alpha-D-Glucose
  • a-D-Glucopyranose
  • a-D-Glucose
  • a-Dextrose
  • a-Glucose
  • alpha-D-Glucopyranose
492-62-6
amylose
  • (1,4-alpha-D-Glucosyl)N
  • (1,4-alpha-D-Glucosyl)N+1
  • (1,4-alpha-D-Glucosyl)N-1
  • (1,4-alpha-delta-Glucosyl)N
  • (1,4-alpha-delta-Glucosyl)N+1
9005-82-7
Dextrin
  • British gum
  • Caloreen
  • Corn dextrin
  • Crystal gum
  • Dextrid
9004-53-9
D-Glucose
  • Roferose ST
  • (+)-Glucose
  • Anhydrous dextrose
  • Cerelose
  • Cerelose 2001
50-99-7

(5) Tocris Compounds for AGL Gene

Compound Action Cas Number
1-Deoxynojirimycin Glucosidase I and II inhibitor 19130-96-2
Acarbose Glucosidase alpha inhibitor (intestinal) 56180-94-0
Kifunensine Inhibitor of class I alpha-mannosidases 109944-15-2
Miglustat hydrochloride alpha-glucosidase I and II inhibitor. Also inhibits ceramide-specific glycosyltransferases 210110-90-0
Swainsonine Inhibitor of alpha-mannosidase II 72741-87-8
genes like me logo Genes that share compounds with AGL: view

Transcripts for AGL Gene

Unigene Clusters for AGL Gene

Amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase:
Representative Sequences:

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for AGL Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7a · 7b ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13a · 13b ^ 14 ^ 15a · 15b ^ 16a · 16b ^ 17a · 17b · 17c ^ 18 ^ 19 ^
SP1:
SP2: -
SP3:
SP4:
SP5: - -
SP6:
SP7: -
SP8:

ExUns: 20 ^ 21 ^ 22
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:

Relevant External Links for AGL Gene

GeneLoc Exon Structure for
AGL
ECgene alternative splicing isoforms for
AGL

Expression for AGL Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for AGL Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for AGL Gene

This gene is overexpressed in Muscle - Skeletal (x10.5).

Protein differential expression in normal tissues from HIPED for AGL Gene

This gene is overexpressed in Retina (28.0) and Liver, secretome (12.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for AGL Gene



Protein tissue co-expression partners for AGL Gene

NURSA nuclear receptor signaling pathways regulating expression of AGL Gene:

AGL

SOURCE GeneReport for Unigene cluster for AGL Gene:

Hs.904

mRNA Expression by UniProt/SwissProt for AGL Gene:

P35573-GDE_HUMAN
Tissue specificity: Liver, kidney and lymphoblastoid cells express predominantly isoform 1; whereas muscle and heart express not only isoform 1, but also muscle-specific isoform mRNAs (isoforms 2, 3 and 4). Isoforms 5 and 6 are present in both liver and muscle.
genes like me logo Genes that share expression patterns with AGL: view

Orthologs for AGL Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for AGL Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia AGL 34 35
  • 99.7 (n)
dog
(Canis familiaris)
Mammalia AGL 34 35
  • 93.06 (n)
cow
(Bos Taurus)
Mammalia AGL 34 35
  • 91.73 (n)
oppossum
(Monodelphis domestica)
Mammalia AGL 35
  • 88 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Agl 34
  • 87.25 (n)
mouse
(Mus musculus)
Mammalia Agl 34 16 35
  • 86.16 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia AGL 35
  • 83 (a)
OneToOne
chicken
(Gallus gallus)
Aves AGL 35
  • 82 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia AGL 35
  • 81 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia agl 34
  • 70.36 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.22218 34
zebrafish
(Danio rerio)
Actinopterygii aglb 35
  • 72 (a)
OneToMany
agla 34 35
  • 68.8 (n)
CABZ01041804.1 35
  • 63 (a)
OneToMany
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.5559 34
fruit fly
(Drosophila melanogaster)
Insecta CG9485 36 34 35
  • 52.02 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001200 34
  • 50.59 (n)
worm
(Caenorhabditis elegans)
Secernentea agl-1 34 35
  • 50.93 (n)
R06A4.8 36
  • 43 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes GDB1 34 35 37 37 37
  • 51.61 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AEL276C 34
  • 47.42 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 51 (a)
OneToOne
bread mold
(Neurospora crassa)
Ascomycetes NCU00743 34
  • 46.88 (n)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.4153 34
Species where no ortholog for AGL was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for AGL Gene

ENSEMBL:
Gene Tree for AGL (if available)
TreeFam:
Gene Tree for AGL (if available)

Paralogs for AGL Gene

Paralogs for AGL Gene

genes like me logo Genes that share paralogs with AGL: view

Variants for AGL Gene

Sequence variations from dbSNP and Humsavar for AGL Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs118203964 Glycogen storage disease 3 (GSD3) [MIM:232400], Pathogenic 99,916,492(+) ACCAA(C/G)GACCT reference, missense
rs113994126 Pathogenic 99,851,058(+) GTAAA(C/T)AGATT reference, stop-gained, utr-variant-5-prime
rs113994127 Pathogenic 99,851,059(+) TAAAC(-/AG)ATTCG reference, frameshift-variant, utr-variant-5-prime
rs113994128 Pathogenic 99,875,394(+) ATGAA(C/T)GACTG reference, stop-gained
rs113994129 Pathogenic 99,881,329(+) TAAGT(A/G)GAATC reference, stop-gained

Structural Variations from Database of Genomic Variants (DGV) for AGL Gene

Variant ID Type Subtype PubMed ID
esv2655277 CNV deletion 19546169
esv2758952 CNV loss 17122850
esv3304048 CNV mobile element insertion 20981092
esv3357668 CNV insertion 20981092
nsv1002853 CNV gain 25217958
nsv1003259 CNV loss 25217958
nsv1132827 CNV insertion 24896259
nsv428146 CNV gain 18775914
nsv523220 CNV loss 19592680
nsv526047 CNV gain 19592680
nsv947436 CNV duplication 23825009

Variation tolerance for AGL Gene

Residual Variation Intolerance Score: 41% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 10.67; 91.44% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for AGL Gene

Human Gene Mutation Database (HGMD)
AGL
SNPedia medical, phenotypic, and genealogical associations of SNPs for
AGL

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for AGL Gene

Disorders for AGL Gene

MalaCards: The human disease database

(9) MalaCards diseases for AGL Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
glycogen storage disease iiia
  • glycogen storage disease iiib
glycogen storage disease
  • glycogenoses
finger agnosia
hypoglycemia
  • hypoglycaemia
glycogen storage disease type 0
  • glycogen storage disease 0
- elite association - COSMIC cancer census association via MalaCards
Search AGL in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

GDE_HUMAN
  • Glycogen storage disease 3 (GSD3) [MIM:232400]: A metabolic disorder associated with an accumulation of abnormal glycogen with short outer chains. It is clinically characterized by hepatomegaly, hypoglycemia, short stature, and variable myopathy. Glycogen storage disease type 3 includes different forms: GSD type 3A patients lack glycogen debrancher enzyme activity in both liver and muscle, while GSD type 3B patients are enzyme-deficient in liver only. In rare cases, selective loss of only 1 of the 2 debranching activities, glucosidase or transferase, results in GSD type 3C or type 3D, respectively. {ECO:0000269 PubMed:10571954}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for AGL

Genetic Association Database (GAD)
AGL
Human Genome Epidemiology (HuGE) Navigator
AGL
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
AGL
genes like me logo Genes that share disorders with AGL: view

No data available for Genatlas for AGL Gene

Publications for AGL Gene

  1. Molecular genetic basis and prevalence of glycogen storage disease type IIIA in the Faroe Islands. (PMID: 11378828) Santer R. … Schaub J. (Eur. J. Hum. Genet. 2001) 3 22 46 64
  2. Heterogeneous mutations in the glycogen-debranching enzyme gene are responsible for glycogen storage disease type IIIa in Japan. (PMID: 10982190) Okubo M. … Murase T. (Hum. Genet. 2000) 3 4 22 64
  3. A nonsense mutation due to a single base insertion in the 3'-coding region of glycogen debranching enzyme gene associated with a severe phenotype in a patient with glycogen storage disease type IIIa. (PMID: 8990006) Shen J. … Chen Y.T. (Hum. Mutat. 1997) 3 22 46 64
  4. Isolation and nucleotide sequence of human liver glycogen debranching enzyme mRNA: identification of multiple tissue-specific isoforms. (PMID: 9332391) Bao Y. … Chen Y.-T. (Gene 1997) 3 4 22 64
  5. A novel donor splice site mutation in the glycogen debranching enzyme gene is associated with glycogen storage disease type III. (PMID: 8702417) Okubo M. … Murase T. (Biochem. Biophys. Res. Commun. 1996) 3 22 46 64

Products for AGL Gene

Sources for AGL Gene

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